Publicaciones
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Vidal-Falcó S, Brandi-Tarrau N, Pacheco-Fernández P, Gerotina E, Blasco-Perez L, Trotta JR, Derdak S, O'Callaghan-Gordo M, Garcia-Cazorla A, Pineda M and Armstrong-Moron J.
The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.
SCIENTIFIC REPORTS . 7(1): 12288-12288. Nº de citas: 19
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Serrano NL, De Diego V, Cuadras-Palleja D, Martinez-Monseny T, Velázquez-Fragua R, López L, Felipe-Villalobos A, Gutiérrez-Solana LG, Macaya A, Pérez-Dueñas B and Serrano M.
A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG).
ORPHANET JOURNAL OF RARE DISEASES . 12(1): 155-155. Nº de citas: 18
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Ortigoza-Escobar JD, Alfadhel M, Molero M, Darin N, Spiegel R, de Coo IF, Gerards M, Taylor RW, Artuch-Iriberri R, Nashabat M, Rodríguez-Pombo P, Tabarki B, Pérez-Dueñas B and Marti-Sanchez L.
Thiamine Deficiency in Childhood with Attention to Genetic Causes: Survival and Outcome Predictors
ANNALS OF NEUROLOGY . 82(3): 317-330. Nº de citas: 50
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de Diego V, Martinez-Monseny T, Muchart-Lopez J, Cuadras-Palleja D, Montero-Sanchez R, Artuch-Iriberri R, Pérez-Cerdá C, Pérez B, Pérez-Dueñas B, Poretti A and Serrano M.
Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG)
JOURNAL OF INHERITED METABOLIC DISEASE . 40(5): 709-713. Nº de citas: 15
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Puerta-Roldan P, Guillen-Quesada A, Carrasco-Torrents R, Muchart-Lopez J, Serrano M and Ferrer Vidal-Barraquer E.
Hydrocephalus due to hyperplasia of the choroid plexuses in a patient with trisomy 9 mosaicism. A real diagnostic and therapeutic challenge
REVISTA DE NEUROLOGIA . 65(3): 112-116. Nº de citas: 3
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Serrano M.
Untreatable Fits of Hyperventilation/Apnea in Pitt-Hopkins Syndrome
Global Journal of Intellectual & Developmental Disabilities . 1(2): 555573.
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Rice GI, Kitabayashi N, Barth M, Briggs TA, Burton ACE, Carpanelli ML, Cerisola AM, Colson C, Dale RC, Danti FR, Darin N, De Azua B, De Giorgis V, De Goede CGL, Desguerre I, De Laet C, Eslahi A, Fahey MC, Fallon P, Fay A, Fazzi E, Gorman MP, Gowrinathan NR, Hully M, Kurian MA, Leboucq N, Lin JS, Lines MA, Mar SS, Maroofian R, Marti-Sanchez L, McCullagh G, Mojarrad M, Narayanan V, Orcesi S, Ortigoza-Escobar JD, Pérez-Dueñas B, Petit F, Ramsey KM, Rasmussen M, Rivier F, Rodríguez-Pombo P, Roubertie A, Stödberg TI, Toosi MB, Toutain A, Uettwiller F, Ulrick N, Vanderver A, Waldman A, Livingston JH and Crow YJ.
Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.
Neuropediatrics . 48(3): 166-184. Nº de citas: 62
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Bravo-Alonso I, Navarrete R, Arribas-Carreira L, Perona A, Abia D, Couce ML, Garcia-Cazorla A, Morais A, Domingo R, Ramos MA, Swanson MA, Van Hove JL, Ugarte M, Pérez B, Pérez-Cerdá C and Rodríguez-Pombo P.
Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease.
HUMAN MUTATION . 38(6): 678-691. Nº de citas: 13
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Suades-González E, Forns J, García-Esteban R, López-Vicente M, Esnaola M, Álvarez-Pedrerol M, Julvez J, Cáceres A, Basagaña X, López-Sala A and Sunyer J.
A Longitudinal Study on Attention Development in Primary School Children with and without Teacher-Reported Symptoms of ADHD.
FRONTIERS IN PSYCHOLOGY . 8: 655-655. Nº de citas: 41
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Andrade-Campos M, Alfonso P, Irun P, Armstrong-Moron J, Calvo C, Dalmau J, Domingo MR, Barbera JL, Cano H, Fernandez-Galán MA, Franco R, Gracia I, Gracia-Antequera M, Ibañez A, Lendinez F, Madruga M, Martin-Hernández E, O'Callaghan-Gordo M, Del Soto AP, Del Prado YR, Sancho-Val I, Sanjurjo P, Pocovi M and Giraldo P.
Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease.
ORPHANET JOURNAL OF RARE DISEASES . 12(1): 84-84. Nº de citas: 24